Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease CTD_human
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 CausalMutation disease CLINVAR
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease BEFREE Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. 31462237 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.040 GeneticVariation disease BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668 2010
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.010 AlteredExpression disease BEFREE IL10 was downregulated and both IF17F and CCL8 were upregulated in AMS individuals. 28611780 2017
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 GeneticVariation disease BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668 2010
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker disease BEFREE Acute phase proteins and inflammatory cytokines (IL-1β, IL-6, and TNF-α) show significant changes between the AMS group and the non-AMS group. 29608374 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 Biomarker disease BEFREE Acute phase proteins and inflammatory cytokines (IL-1β, IL-6, and TNF-α) show significant changes between the AMS group and the non-AMS group. 29608374 2018
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.020 GeneticVariation disease BEFREE Age was found to be significantly associated with the EPAS1 SNP in the CMS patients while heart rate (HR) and oxygen saturation level of hemoglobin (SaO(2)) were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with AMS. 22595196 2012
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
0.010 GeneticVariation disease BEFREE As the vasodilator bradykinin may be involved in acclimatization to altitude, we hypothesized that variants in genes encoding components of this pathway might play a role in AMS susceptibility. 20511677 2010
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease BEFREE Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. 27196381 2016
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease GENOMICS_ENGLAND CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE. 14069095 1963
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE Drugs commonly used to treat AMS were screened with a luciferase reporter cell system for their effectiveness to activate Nrf2, as well as being tested for their ability to decrease high altitude cerebral vascular leak in vivo. 23722164 2013
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 Biomarker disease BEFREE Drugs commonly used to treat AMS were screened with a luciferase reporter cell system for their effectiveness to activate Nrf2, as well as being tested for their ability to decrease high altitude cerebral vascular leak in vivo. 23722164 2013
Entrez Id: 6355
Gene Symbol: CCL8
CCL8
0.010 AlteredExpression disease BEFREE IL10 was downregulated and both IF17F and CCL8 were upregulated in AMS individuals. 28611780 2017
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.020 Biomarker disease BEFREE In addition, erythropoietin and vascular endothelial growth factor were 1.69 and 1.75 times higher, respectively, in those with AMS. 31189189 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.030 Biomarker disease BEFREE In addition, erythropoietin and vascular endothelial growth factor were 1.69 and 1.75 times higher, respectively, in those with AMS. 31189189 2019
Entrez Id: 3240
Gene Symbol: HP
HP
0.010 Biomarker disease BEFREE In AMS group, serum Tf significantly increased while Hp decreased when compared with non-AMS group. 29608374 2018
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.050 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
0.030 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
0.030 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
0.010 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 4303
Gene Symbol: FOXO4
FOXO4
0.010 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
0.010 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018